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Table 1 Phenotypes resulting from genetic ablation or mutations of the orphan nuclear receptor SF-1.

From: SF-1 a key player in the development and differentiation of steroidogenic tissues

Organism Mouse Human
Genotype SF-1 -/- SF-1 +/- SF-1 m/+ ou SF-1 m/m
Adrenal - Agenesis - Histological defects
- Hyporesponse to stress
- Compensatory growth defects
- Insufficiency (agenesis or dysgenesis)
Testis - Agenesis
- Sex reversal
  - Sex reversal
Ovary - Agenesis   - Normal
VMH - Agenesis
- Obesity caused by absence
of the VMH (8 weeks)
Pituitary - Defects of gonadotrope cells